eNOS G894T polymorphism as a mild predisposing factor for abdominal aortic aneurysm.

Area of Science:

• Cardiovascular Genetics
• Molecular Medicine
• Vascular Biology

Background:

• Abdominal aortic aneurysm (AAA) is a degenerative condition linked to atherosclerosis.
• Nitric oxide (NO) plays a crucial role in endothelial function and maintaining an antithrombotic intravascular environment.
• Rare variants in the endothelial nitric oxide synthase (eNOS) gene may increase AAA risk due to reduced NO generation.

Purpose of the Study:

• To investigate the association between eNOS gene polymorphisms (T-786C, G894T, and 4a/4b) and the predisposition to abdominal aortic aneurysm (AAA).
• To evaluate the influence of these polymorphisms in both hypertensive and normotensive patients with AAA.

Main Methods:

• A case-control study involving 250 patients with AAA and 250 healthy controls.
• Genotyping for eNOS T-786C, G894T, and 4a/4b polymorphisms.
• Duplex scanning and clinical examinations to assess AAA and other atherosclerotic localizations.

Main Results:

• The eNOS G894T polymorphism showed significant differences in genotype distribution and allele frequency compared to controls.
• The 894T variant was significantly associated with AAA predisposition, even after adjusting for traditional risk factors and other atherosclerotic localizations.
• This association remained significant across dominant and recessive genetic models.

Conclusions:

• The eNOS G894T polymorphism acts as a mild modulator in AAA predisposition.
• This suggests a genetic contribution to the molecular pathways underlying AAA, beyond established risk factors.
• The findings highlight the importance of genetic factors in the complex etiology of AAA.